ODCs

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X-linked dominant chondrodysplasia, Chassaing-Lacombe type

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1

Multiple endocrine neoplasia type 1

1 OMIM reference -
5 associated genes
13 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Multiple endocrine neoplasia type 1

HDAC6	(UniProt - OMIM)	CDKN1A	(UniProt - OMIM)
		CDKN1B	(UniProt - OMIM)
		CDKN2B	(UniProt - OMIM)
		CDKN2C	(UniProt - OMIM)
		MEN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC6	(0.56)	CDKN1A

Citations in the biomedical literature:

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Multiple endocrine neoplasia type 1
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): - MEN 1 - Wermer syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D018761

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Multiple endocrine neoplasia type 1
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal bossing / prominent forehead - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Rib structure anomalies Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Short philtrum		Very frequent - Anomalies of the endocrine glands - Anomaly of pancreatic hormones - Autosomal dominant inheritance - Hypercalcemia - Hyperparathyroidy - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Neoplasms / tumors - Parathyroids anomalies - Structural anomalies of the pancreas Frequent - Cortico-adrenal hyperplasia / hypersecretion - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis - Thyroid anomalies - Xanthomas / lipomas